Author(s):
1. Faiza Sattar:
Department of Biosciences, University of Wah,Wah Cantt, Rawalpindi,Pakistan
2. Syed Waqas Hassan:
Department of Biosciences, University of Wah,Wah Cantt, Rawalpindi,Pakistan
3. Bushra Gul:
Department of Biosciences, University of Wah,Wah Cantt, Rawalpindi,Pakistan
Abstract:
Gaucher Disease (GD), is one of the most pervasive lysosomal storage diseases transmitted in autosomal recessive pattern. It results from a lack of the enzyme glucocerebrosidase. The chemical substrate glucocerebroside gather in the patient's spleen, liver and bone marrow. The resultant collection in few tissues and organs prompts various signs like anemia, hepatosplenomegaly, thrombocytopenia, development hindrance and skeletal illness There are three detailed clinical kinds of GD where type 1 is non-neurological yet type 2 and 3 are neurological handicap. The gene responsible for glucocerebrosidase is GBA, situated on chromosome lq21 having 11 exon and 10 introns. The exon 9 and 10 is the hot spot exon of GD in Asia and worldwide. In the current study, we investigated the exon 10 of GBA gene transformations in families with Gaucher disease. Numerous families were involved for sequencing and genetic investigation. Genomic DNA extraction was finished by the phenol-chloroform method and PCR response were finished for Sangar sequencing. Sequencing uncovered 4 distinct variations including 1 novel heterozygous and nonsynonymous polymorphism and other 3 variations were predicted to be disease causing mutation by mutation taster. Three novel mutations were found, 2 of them is non-synonymous heterozygous and other one is synonymous heterozygous mutation. This shows extensive image of molecular properties of GBA gene and related phenotypic varieties in the patients. We want further assessment of residual exons to decide the carrier proportion of Gaucher disease in our population or whether we ought to evaluate our neonates for such lysosomal disease.
Page(s):
0-0
DOI:
DOI not available
Published:
Journal: First International Conference on Revamped Scientific Outlook of 21st Century (Abstract Book), Volume: 0, Issue: 0, Year: 2022
Keywords:
Mutation
,
Polymorphism
,
Glucocerebrosidase
,
Lysosomal storage disease
,
Gaucher disease
References:
References are not available for this document.
Citations
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